ClinVar Miner

List of variants in gene PRPS1 reported as likely pathogenic for Arts syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002764.4(PRPS1):c.127G>A (p.Glu43Lys) rs2147681381
NM_002764.4(PRPS1):c.307-2A>G rs1556299881
NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002764.4(PRPS1):c.547G>C (p.Asp183His) rs137852541
NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp) rs1556300621

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